ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684133
Gene: JAG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.His1129Asn
CA9764215
NM_000214.3:c.3385C>A